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Multiple fibrofolliculomas(BHD)

MedGen UID:
91070
Concept ID:
C0346010
Neoplastic Process
Synonyms: BHD; BHD syndrome; Birt-Hogg-Dube Syndrome; Birt-Hogg-Dubé Syndrome; Fibrofolliculomas with trichodiscomas and acrochordons; Hornstein-Knickenberg syndrome
SNOMED CT: Multiple fibrofolliculomata (110985001); Birt-Hogg-Dube syndrome (110985001); Multiple fibrofolliculomas (110985001); Birt-Hogg-Dubé syndrome (110985001); Familial multiple fibrofolliculoma (110985001)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): FLCN (17p11.2)
 
Monarch Initiative: MONDO:0007607
OMIM®: 135150
Orphanet: ORPHA122

Disease characteristics

Excerpted from the GeneReview: Birt-Hogg-Dubé Syndrome
The clinical characteristics of Birt-Hogg-Dubé syndrome (BHDS) include cutaneous manifestations (fibrofolliculomas, acrochordons, angiofibromas, oral papules, cutaneous collagenomas, and epidermal cysts), pulmonary cysts/history of pneumothorax, and various types of renal tumors. Disease severity can vary significantly even within the same family. Skin lesions typically appear between the second and fourth decades of life and typically increase in size and number with age. Lung cysts are often bilateral and multifocal; most individuals are asymptomatic but at high risk for spontaneous pneumothorax. Individuals with BHDS are at a sevenfold increased risk for renal tumors that can be bilateral and multifocal; median age of renal tumor diagnosis is 48 years. The most common renal tumors are a hybrid of oncocytoma and chromophobe histologic cell types (oncocytic hybrid tumor) and chromophobe histologic cell types. Some families have renal tumor(s) and/or spontaneous pneumothorax without cutaneous manifestations. [from GeneReviews]
Authors:
Elke C Sattler  |  Ortrud K Steinlein   view full author information

Additional descriptions

From OMIM
Birt-Hogg-Dube syndrome is an autosomal dominant genodermatosis characterized by hair follicle hamartomas, kidney tumors, and spontaneous pneumothorax (Nickerson et al., 2002). BHD is similar to, but histologically and genetically distinct from, familial multiple discoid fibromas (FMDF; 190340).  http://www.omim.org/entry/135150
From MedlinePlus Genetics
Birt-Hogg-Dubé syndrome is a rare disorder that affects the skin and lungs and increases the risk of certain types of tumors. Its signs and symptoms vary among affected individuals.\n\nBirt-Hogg-Dubé syndrome is characterized by multiple noncancerous (benign) skin tumors, particularly on the face, neck, and upper chest. These growths typically first appear in a person's twenties or thirties and become larger and more numerous over time. Affected individuals also have an increased chance of developing cysts in the lungs and an abnormal accumulation of air in the chest cavity (pneumothorax) that may result in the collapse of a lung. Additionally, Birt-Hogg-Dubé syndrome is associated with an elevated risk of developing cancerous or noncancerous kidney tumors. Other types of cancer have also been reported in affected individuals, but it is unclear whether these tumors are actually a feature of Birt-Hogg-Dubé syndrome.  https://medlineplus.gov/genetics/condition/birt-hogg-dube-syndrome

Clinical features

From HPO
Malignant tumor of colon
MedGen UID:
2839
Concept ID:
C0007102
Neoplastic Process
A primary or metastatic malignant neoplasm that affects the colon. Representative examples include carcinoma, lymphoma, and sarcoma.
Renal cell carcinoma
MedGen UID:
766
Concept ID:
C0007134
Neoplastic Process
A carcinoma arising from the renal parenchyma. There is a strong correlation between cigarette smoking and the development of renal cell carcinoma. The clinical presentation includes : hematuria, flank pain and a palpable lumbar mass. A high percentage of renal cell carcinomas are diagnosed when an ultrasound is performed for other purposes. Radical nephrectomy is the standard intervention procedure. Renal cell carcinoma is generally considered to be resistant to radiation treatment and chemotherapy.
Renal neoplasm
MedGen UID:
5967
Concept ID:
C0022665
Neoplastic Process
A benign or malignant neoplasm affecting the kidney. Representative examples of benign renal neoplasms include fibroma, lipoma, oncocytoma, and juxtaglomerular cell tumor. Representative examples of malignant renal neoplasms include renal cell carcinoma, renal pelvis carcinoma, Wilms tumor, rhabdoid tumor, sarcoma, and lymphoma.
Fibrofolliculoma
MedGen UID:
138032
Concept ID:
C0346011
Neoplastic Process
Fibrofolliculoma is a clinically asymptomatic, 2-4 mm, skin-colored, dome-shaped smooth papule. It usually arises in the form of multiple lesions in adults in different areas such as the scalp, forehead, face, and neck. According to histology, the lesion is a fibrotic hamartoma characterized by infundibular epithelial proliferation and perifollicular fibrous proliferation.
Cutaneous leiomyoma
MedGen UID:
87533
Concept ID:
C0346064
Neoplastic Process
The presence of leiomyoma of the skin.
Cutaneous leiomyosarcoma
MedGen UID:
87534
Concept ID:
C0346067
Neoplastic Process
A rare, mitotically active spindle cell neoplasm arising from the smooth muscle in the dermis. It has an excellent prognosis, as compared to the deep soft tissue leiomyosarcomas.
Multiple lipomas
MedGen UID:
677074
Concept ID:
C0745730
Finding
Trichodiscoma
MedGen UID:
352818
Concept ID:
C1704237
Neoplastic Process
A small benign fibrovascular tumor of the dermal part of the hair disk. Trichodiscoma is rather simple in appearance and consists of a dome-shaped fibrous tumor with a prominent vascular component that fills the papillary dermis under an atrophic epidermis. As in a normal hair disk, a hair follicle may be present at one edge of the papular lesion.
Large intestinal polyposis
MedGen UID:
868164
Concept ID:
C4022556
Disease or Syndrome
The presence of multiple polyps in the large intestine.
Renal cell carcinoma
MedGen UID:
766
Concept ID:
C0007134
Neoplastic Process
A carcinoma arising from the renal parenchyma. There is a strong correlation between cigarette smoking and the development of renal cell carcinoma. The clinical presentation includes : hematuria, flank pain and a palpable lumbar mass. A high percentage of renal cell carcinomas are diagnosed when an ultrasound is performed for other purposes. Radical nephrectomy is the standard intervention procedure. Renal cell carcinoma is generally considered to be resistant to radiation treatment and chemotherapy.
Renal neoplasm
MedGen UID:
5967
Concept ID:
C0022665
Neoplastic Process
A benign or malignant neoplasm affecting the kidney. Representative examples of benign renal neoplasms include fibroma, lipoma, oncocytoma, and juxtaglomerular cell tumor. Representative examples of malignant renal neoplasms include renal cell carcinoma, renal pelvis carcinoma, Wilms tumor, rhabdoid tumor, sarcoma, and lymphoma.
Renal cyst
MedGen UID:
854361
Concept ID:
C3887499
Disease or Syndrome
A fluid filled sac in the kidney.
Malignant tumor of colon
MedGen UID:
2839
Concept ID:
C0007102
Neoplastic Process
A primary or metastatic malignant neoplasm that affects the colon. Representative examples include carcinoma, lymphoma, and sarcoma.
Large intestinal polyposis
MedGen UID:
868164
Concept ID:
C4022556
Disease or Syndrome
The presence of multiple polyps in the large intestine.
Multiple lipomas
MedGen UID:
677074
Concept ID:
C0745730
Finding
Spontaneous pneumothorax
MedGen UID:
57701
Concept ID:
C0149781
Disease or Syndrome
Pneumothorax occurring without traumatic injury to the chest or lung.
Cystic disease of lung
MedGen UID:
640840
Concept ID:
C0555214
Disease or Syndrome
The presence of multiple lung cysts.
Fibrofolliculoma
MedGen UID:
138032
Concept ID:
C0346011
Neoplastic Process
Fibrofolliculoma is a clinically asymptomatic, 2-4 mm, skin-colored, dome-shaped smooth papule. It usually arises in the form of multiple lesions in adults in different areas such as the scalp, forehead, face, and neck. According to histology, the lesion is a fibrotic hamartoma characterized by infundibular epithelial proliferation and perifollicular fibrous proliferation.
Cutaneous leiomyoma
MedGen UID:
87533
Concept ID:
C0346064
Neoplastic Process
The presence of leiomyoma of the skin.
Cutaneous leiomyosarcoma
MedGen UID:
87534
Concept ID:
C0346067
Neoplastic Process
A rare, mitotically active spindle cell neoplasm arising from the smooth muscle in the dermis. It has an excellent prognosis, as compared to the deep soft tissue leiomyosarcomas.
Sebaceous hyperplasia
MedGen UID:
98352
Concept ID:
C0406484
Disease or Syndrome
A common, benign skin condition involving hypertrophy of the sebaceous glands characterized by single or multiple lesions that manifest as yellow, soft, small papules with umbilication. The lesions are located commonly on the central face (specifically, the nose, cheeks and forehead) but may also occur elswehere, including the chest, mouth, scrotum, foreskin, penile shaft, vulva, and areola.
Trichodiscoma
MedGen UID:
352818
Concept ID:
C1704237
Neoplastic Process
A small benign fibrovascular tumor of the dermal part of the hair disk. Trichodiscoma is rather simple in appearance and consists of a dome-shaped fibrous tumor with a prominent vascular component that fills the papillary dermis under an atrophic epidermis. As in a normal hair disk, a hair follicle may be present at one edge of the papular lesion.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMultiple fibrofolliculomas
Follow this link to review classifications for Multiple fibrofolliculomas in Orphanet.

Professional guidelines

PubMed

Hampel H, Bennett RL, Buchanan A, Pearlman R, Wiesner GL; Guideline Development Group, American College of Medical Genetics and Genomics Professional Practice and Guidelines Committee and National Society of Genetic Counselors Practice Guidelines Committee.
Genet Med 2015 Jan;17(1):70-87. Epub 2014 Nov 13 doi: 10.1038/gim.2014.147. PMID: 25394175
Reaume MN, Graham GE, Tomiak E, Kamel-Reid S, Jewett MA, Bjarnason GA, Blais N, Care M, Drachenberg D, Gedye C, Grant R, Heng DY, Kapoor A, Kollmannsberger C, Lattouf JB, Maher ER, Pause A, Ruether D, Soulieres D, Tanguay S, Turcotte S, Violette PD, Wood L, Basiuk J, Pautler SE; Kidney Cancer Research Network of Canada.
Can Urol Assoc J 2013 Sep-Oct;7(9-10):319-23. doi: 10.5489/cuaj.1496. PMID: 24319509Free PMC Article

Recent clinical studies

Etiology

Steinlein OK, Ertl-Wagner B, Ruzicka T, Sattler EC
J Dtsch Dermatol Ges 2018 Mar;16(3):278-283. doi: 10.1111/ddg.13457. PMID: 29537177
Kluger N, Giraud S, Coupier I, Avril MF, Dereure O, Guillot B, Richard S, Bessis D
Br J Dermatol 2010 Mar;162(3):527-37. Epub 2009 Sep 26 doi: 10.1111/j.1365-2133.2009.09517.x. PMID: 19785621
Leter EM, Koopmans AK, Gille JJ, van Os TA, Vittoz GG, David EF, Jaspars EH, Postmus PE, van Moorselaar RJ, Craanen ME, Starink TM, Menko FH
J Invest Dermatol 2008 Jan;128(1):45-9. Epub 2007 Jul 5 doi: 10.1038/sj.jid.5700959. PMID: 17611575

Diagnosis

Steinlein OK, Ertl-Wagner B, Ruzicka T, Sattler EC
J Dtsch Dermatol Ges 2018 Mar;16(3):278-283. doi: 10.1111/ddg.13457. PMID: 29537177
Ponti G, Pellacani G, Seidenari S, Pollio A, Muscatello U, Tomasi A
Crit Rev Oncol Hematol 2013 Mar;85(3):239-56. Epub 2012 Jul 21 doi: 10.1016/j.critrevonc.2012.07.001. PMID: 22823951
Happle R
Am J Med Genet A 2012 Jun;158A(6):1247-51. Epub 2012 May 11 doi: 10.1002/ajmg.a.35330. PMID: 22581760
Starink TM, Houweling AC, van Doorn MB, Leter EM, Jaspars EH, van Moorselaar RJ, Postmus PE, Johannesma PC, van Waesberghe JH, Ploeger MH, Kramer MT, Gille JJ, Waisfisz Q, Menko FH
J Am Acad Dermatol 2012 Feb;66(2):259.e1-9. Epub 2011 Jul 26 doi: 10.1016/j.jaad.2010.11.039. PMID: 21794948
Weintraub R, Pinkus H
J Cutan Pathol 1977 Dec;4(6):289-99. doi: 10.1111/j.1600-0560.1977.tb00920.x. PMID: 753849

Prognosis

Steinlein OK, Ertl-Wagner B, Ruzicka T, Sattler EC
J Dtsch Dermatol Ges 2018 Mar;16(3):278-283. doi: 10.1111/ddg.13457. PMID: 29537177

Clinical prediction guides

Misago N, Narisawa Y
Clin Exp Dermatol 2009 Dec;34(8):892-4. Epub 2009 Jan 15 doi: 10.1111/j.1365-2230.2008.03065.x. PMID: 19196303
Leter EM, Koopmans AK, Gille JJ, van Os TA, Vittoz GG, David EF, Jaspars EH, Postmus PE, van Moorselaar RJ, Craanen ME, Starink TM, Menko FH
J Invest Dermatol 2008 Jan;128(1):45-9. Epub 2007 Jul 5 doi: 10.1038/sj.jid.5700959. PMID: 17611575
De la Torre C, Ocampo C, Doval IG, Losada A, Cruces MJ
Am J Dermatopathol 1999 Aug;21(4):369-74. doi: 10.1097/00000372-199908000-00011. PMID: 10446780
Weintraub R, Pinkus H
J Cutan Pathol 1977 Dec;4(6):289-99. doi: 10.1111/j.1600-0560.1977.tb00920.x. PMID: 753849

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